Wills Eye Institute, Philadelphia, Pennsylvania 19107, USA.
Curr Opin Ophthalmol. 2013 Sep;24(5):389-97. doi: 10.1097/ICU.0b013e3283641f91.
To describe the entity of Lyonization in ocular eye diseases, along with its clinical and counseling implications.
Several X-linked ocular diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may have signs of Lyonization on ocular examination and diagnostic testing. These findings may aid in the proper diagnosis of ocular disease in both female carriers and their affected male relatives.
Manifestations of Lyonization in the eye may help in the diagnosis of X-linked ocular diseases which may lead to accurate diagnosis, appropriate molecular genetic testing and genetic counseling.
描述眼部 Lyonization 现象的实质，以及其临床和咨询意义。
几种 X 连锁眼部疾病，如脉络膜视网膜变性、X 连锁视网膜色素变性和 X 连锁眼白化病，在眼部检查和诊断性检查中可能有 Lyonization 的迹象。这些发现有助于对女性携带者及其受影响的男性亲属的眼部疾病进行正确诊断。
眼部 Lyonization 的表现可能有助于 X 连锁眼部疾病的诊断，从而实现准确诊断、适当的分子遗传学检测和遗传咨询。
